chr11:108257519:T>A Detail (hg38) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,128,246-108,128,246 View the variant detail on this assembly version.
hg38 chr11:108,257,519-108,257,519

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.2289T>A NP_000042.3:p.Phe763Leu
NM_001351834.1:c.2289T>A NP_001338763.1:p.Phe763Leu
Ensemble ENST00000278616.10:c.2289T>A ENST00000278616.10:p.Phe763Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 607585 OMIM
HGNC 795 HGNC
Ensembl ENSG00000149311 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv375525599 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2021-05-18 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2024-01-30 criteria provided, conflicting interpretations Ataxia-telangiectasia syndrome germline unknown Detail
Benign Likely benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Uncertain significance 2017-05-23 criteria provided, single submitter Familial cancer of breast,Ataxia-telangiectasia syndrome unknown Detail
Uncertain significance 2017-05-23 criteria provided, single submitter Familial cancer of breast,Ataxia-telangiectasia syndrome unknown Detail
Conflicting interpretations of pathogenicity 2024-01-01 criteria provided, conflicting interpretations not provided germline Detail
Likely benign no assertion criteria provided Familial ovarian cancer unknown Detail
Likely benign 2022-12-23 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) AND Ataxia-telangiectasia syndrome ClinVar Detail
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) AND not specified ClinVar Detail
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) AND multiple conditions ClinVar Detail
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) AND multiple conditions ClinVar Detail
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) AND not provided ClinVar Detail
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) AND Familial ovarian cancer ClinVar Detail
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) AND Breast and/or ovarian cancer ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs34231402 dbSNP
Genome
hg38
Position
chr11:108,257,519-108,257,519
Variant Type
snv
Reference Allele
T
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8636
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121286
Allele Counts in All Race (ExAC)
62
Heterozygous Counts in All Race (ExAC)
62
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.111884306515179E-4
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